Mutagenetix > Incidental Mutation

Incidental Mutation 'R1336:Cox16'

156882

Institutional Source

Beutler Lab

Gene Symbol

Cox16

Ensembl Gene

ENSMUSG00000091803

Gene Name

cytochrome c oxidase assembly protein 16

Synonyms

1810020G14Rik, 1810055I05Rik

MMRRC Submission

039401-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R1336 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81405800-81531901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81519064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 89 (D89G)

Ref Sequence

ENSEMBL: ENSMUSP00000002757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002757] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166664] [ENSMUST00000166723] [ENSMUST00000168463] [ENSMUST00000169124] [ENSMUST00000171459]

AlphaFold

Q9CR63

Predicted Effect

probably damaging
Transcript: ENSMUST00000002757
AA Change: D89G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002757
Gene: ENSMUSG00000091803
AA Change: D89G

Domain	Start	End	E-Value	Type
Pfam:COX16	16	88	1.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163282

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166664
AA Change: D165G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131728
Gene: ENSMUSG00000021139
AA Change: D165G

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168961

Predicted Effect

probably benign
Transcript: ENSMUST00000168463

SMART Domains

Protein: ENSMUSP00000127295
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	78	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169124

SMART Domains

Protein: ENSMUSP00000128281
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	69	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171459

Meta Mutation Damage Score

0.1576

Coding Region Coverage

1x: 98.5%
3x: 97.1%
10x: 92.3%
20x: 80.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah2	A	G	19: 32,022,341 (GRCm39)	I231T	probably damaging	Het
Bbs7	A	G	3: 36,658,593 (GRCm39)	I227T	probably benign	Het
Ccdc141	T	C	2: 76,844,784 (GRCm39)	T1428A	probably damaging	Het
Chsy1	C	A	7: 65,774,987 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,934,041 (GRCm39)	I3511T	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,901 (GRCm39)	Y333N	probably damaging	Het
Fcrl6	G	A	1: 172,426,791 (GRCm39)	Q52*	probably null	Het
Fgl2	T	A	5: 21,578,181 (GRCm39)	L156Q	possibly damaging	Het
Fras1	A	G	5: 96,855,167 (GRCm39)	D1892G	probably benign	Het
Ogfod1	T	C	8: 94,784,727 (GRCm39)	C344R	probably damaging	Het
Papss2	T	C	19: 32,615,715 (GRCm39)	V149A	possibly damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Pmfbp1	T	G	8: 110,256,898 (GRCm39)	I534S	probably damaging	Het
Rif1	T	A	2: 51,968,326 (GRCm39)	W170R	probably benign	Het
Ros1	G	A	10: 52,044,758 (GRCm39)	T183I	probably damaging	Het
Snx4	T	C	16: 33,101,050 (GRCm39)	I234T	probably benign	Het
Sptbn4	A	G	7: 27,117,388 (GRCm39)	S454P	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Uck1	T	C	2: 32,149,666 (GRCm39)	D71G	probably damaging	Het
Vcan	C	T	13: 89,841,174 (GRCm39)	E497K	probably damaging	Het

Other mutations in Cox16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1332:Cox16	UTSW	12	81,519,064 (GRCm39)	missense	probably damaging	1.00
R1489:Cox16	UTSW	12	81,521,389 (GRCm39)	missense	probably null	0.99
R4079:Cox16	UTSW	12	81,521,109 (GRCm39)	unclassified	probably benign
R4284:Cox16	UTSW	12	81,521,293 (GRCm39)	splice site	probably null
R5509:Cox16	UTSW	12	81,519,032 (GRCm39)	missense	probably benign	0.00
R5538:Cox16	UTSW	12	81,531,703 (GRCm39)	missense	possibly damaging	0.92
R6356:Cox16	UTSW	12	81,519,115 (GRCm39)	missense	probably damaging	1.00
R7126:Cox16	UTSW	12	81,518,940 (GRCm39)	missense	probably benign	0.01
R7594:Cox16	UTSW	12	81,521,352 (GRCm39)	splice site	probably null
R8267:Cox16	UTSW	12	81,527,713 (GRCm39)	missense	probably benign	0.00
R9447:Cox16	UTSW	12	81,406,109 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTACTGCACAACACAGCCTTTTC -3'
(R):5'- GGGTTTTCCTTGACCTGATCACCAC -3'

Sequencing Primer
(F):5'- tgtgtgtgtgtgtgtTCAAC -3'
(R):5'- TGACCTGATCACCACTTAGTGATAAC -3'

Posted On

2014-02-11